Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		disease 0.710 None 1.000 4 4 1997 2015
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.700 None 0.983 17 4 1997 2018
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease 0.700 None 1.000 15 1 1996 2019
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		disease 0.700 moderate 1.000 0 6 1996 2015
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		disease 0.170 None 0.955 15 1 1997 2017
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.110 None 1.000 0 3 2017 2017
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.100 None 0 1
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval 		phenotype 0.100 None 0 1
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C3150956
Disease: LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO 		disease 0.100 None 0 1